The 100,000 Genomes Project by numbers

This update gives you the number of whole genomes sequenced so far against our target of 100,000. This figure is updated every month.

Thank you to everyone who has taken part and helped us to achieve this!

For background on our progress, see our previous update.

Genomes Sequenced = 34,151

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Whole Genome Sequencing to diagnose TB

Scientist working at a DNA sequencing machine

Public Health England has announced that Whole Genome Sequencing (WGS) is now being used to identify different strains of tuberculosis (TB).

This is the first time that WGS has been used as a diagnostic solution for managing a disease on this scale anywhere in the world.  The technique, developed in conjunction with the University of Oxford, allows faster and more accurate diagnoses, meaning patients can be treated with precisely the right medication more quickly.

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Scotland study to probe causes of rare diseases

DNA

People in Scotland with rare genetic diseases are set to benefit from a DNA study that seeks to improve their diagnoses and treatments.

The study – launched by the Scottish Genomes Partnership in collaboration with Genomics England – will analyse the entire genetic make-up of 330 people with rare diseases and members of their family.

Using advanced computing to link genetic data with patients’ health information, scientists hope to pinpoint differences in their DNA code that may be responsible for their condition.

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Rare Disease Day 2017

Today (February 28th) is Rare Disease Day.

Rare disease is a deceptive term. There are 6,000 to 8,000 different rare diseases. So although each one is rare, as a group they are common. So much so, that 1 person in 17, or 7% of people are affected by a rare disease.

About 80% of rare diseases have a genetic cause. The cause is often a single changed ‘letter’ amongst the 3.2 billion letters of DNA that make up the human genome.

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The 100,000 Genomes Project Update

Scientist working at a sequencing machine

By Sir John Chisholm, Executive Chairman, Genomics England.

As many NHS Genomic Medicine Centres are gearing up to organise local activities to mark Rare Disease Day next week (28th February), the 100,000 Genomes Project is making great progress.  All thirteen NHS Genomic Medicine Centres are recruiting rare disease and cancer patients to the Project, and initiatives in Scotland, Northern Ireland and Wales have agreed to join us in this world leading programme.

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10,000 Whole Genome Sequences

diagram of DNA mapping

We have now passed the 10,000 milestone, an important achievement for one of the largest DNA sequencing projects in the world.

With July’s tally of 11,221 whole genomes sequenced, the NHS Genomic Medicine Centres across England are continuing to recruit rare disease and cancer patients to the 100,000 Genomes Project. Biotech company Illumina are undertaking the genome sequencing and Genomics England, together with clinical interpretation partners are interpreting those sequences to return results to patients and clinicians.

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Socialising the Genome

drawing of a periscope in a sea of DNA

‘How easy is it to strike up a conversation about DNA and genomics? Geno-what?’

This is a challenge faced by scientists and the general public ever since the first human genome was mapped fifteen years ago. A new project, Socialising the Genome, is now underway to find out how to make genomics a more social concept.

The last Wellcome Trust Monitor survey said only 12% of the population would say they had a good understanding of what a genome is.

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Socialising the Genome

By Dr Anna Middleton, Principal Staff Scientist (social science, ethics, genetic counselling), Wellcome Genome Campus, Cambridge.

How easy is it to strike up a conversation about genomics? Geno-what?

Does the average person on the street know enough about the issues to even care? A project called Socialising the Genome has just been launched to explore how to turn genomics from an anti-social concept to a more social one.

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Scottish investment in genomic medicine

The Scottish Government Logo

Scottish Genomes Partnership backed by £6 million.

Minister for Sport, Health Improvement and Mental Health, Jamie Hepburn has announced a £6 million investment in the Scottish Genomes Partnership (SGP), ahead of a parliamentary reception to mark Rare Disease Day.

The SGP is a collaboration of Scottish Universities and the NHS capitalising on £15 million investment in whole genome sequencing technology by the Universities of Edinburgh and Glasgow.

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Rare Disease Day 2016

Rare Disease Day logo

Our clinical lead for rare disease, Dr Richard Scott, gives an update on our work. February 29th 2016 is Rare Disease Day.

Rare disease is a deceptive term. There are 6,000 to 8,000 different rare diseases. This means that although each one is rare, as a group they are common. So much so, that 1 person in 17 is affected with a rare disease. That is 7%.

Until recently,

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Latest from the 100,000 Genomes Project

George Freeman MP

Across England patients with cancer are now being recruited to the main phase of the 100,000 Genomes Project, giving the fight against cancer a significant boost. Minister for Life Sciences George Freeman MP announced the news at the Festival of Genomics in London yesterday.

Speaking at the conference, the Minister also announced that the government has committed a further £250 million in funding for genomics as part of the recent Spending Review.

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First children receive diagnoses through 100,000 Genomes Project

Georgia Walburn-Green with her parents.

The first children to receive a genetic diagnosis through the 100,000 Genomes Project have been given their results at Great Ormond Street Hospital (GOSH), part of the North Thames NHS Genomic Medicine Centre.

Both Georgia Walburn-Green and Jessica Wright had rare, undiagnosed, genetic conditions when they joined the Project. Whole genome sequencing pinpointed the underlying genetic changes responsible for their conditions.

As well as removing a large amount of uncertainty for the families,

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New NHS centres join 100,000 Genomes Project

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Two new NHS Genomic Medicine Centres have today been unveiled as being part of the unique, innovative and world-leading 100,000 Genomes Project.

Yorkshire and the Humber and West of England are the latest NHS Genomic Medicine Centres to be added to the 11 centres already up and running. They are expected to start their work in February next year.

The 100,000 Genomes Project was announced by the Prime Minister in 2012 in a bid to transform diagnosis and treatment for patients with cancer and rare diseases in the fast-emerging field of genomic medicine.

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Call for members of new Participant Panel

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Joining the Participant Panel

We are looking for people who have taken part in the 100,000 Genomes Project to join our national Participant Panel. The 100,000 Genomes Project is a landmark project in healthcare which has the potential to bring personalised medicine to the NHS. This new panel will help shape it’s future.

The role of the Participant Panel is to ensure the interests of participants are always at the centre of the 100,000 Genomes Project.

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Northern Ireland joins the 100,000 Genomes Project

senior female patient in hospital

Health Minister in the Northern Ireland Executive, Simon Hamilton, today announced £3.3m investment to create a Northern Ireland Genomic Medicine Centre that will provide rare disease patients with a much earlier and more accurate diagnosis.

It is estimated that 1 in 17 people are born with or develop a rare disease during their lifetime. At least 80% of rare diseases have an identified genetic component, with 50% of new cases being found in children.

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Genomics England announces interpretation partners and expands industry engagement

meeting

Genomics England has today (30th September 2015) announced that it has contracted with Congenica and Omicia to work with them on the interpretation of the genomes from 8,000 patients participating in the 100,000 Genomes Project.  Work with LockheedMartin-Cypher, Nanthealth and WuxiNextcode continues as part of a test phase.  This is in addition to ongoing work with sequencing partner Illumina who are also exploring a variety of bioinformatic challenges around sequencing and clinical interpretation.

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Garvan partners with Genomics England to advance genomic medicine

Mark and John

The Garvan Institute of Medical Research has signed a memorandum of understanding with Genomics England, the organisation established by the UK’s Department of Health to deliver the world-first 100,000 Genomes Project. The two organisations will share resources and expertise to advance genomic medicine in Australia and the UK.

The 100,000 Genomes Project will sequence genomes from around 70,000 National Health Service (NHS) patients, focusing on individuals with rare diseases or cancer.

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New rare disease gene tool launched – PanelApp

PanelApp

Genomics England has developed a unique resource, the ‘PanelApp’. It is a new crowdsourcing tool for the scientific community, allowing knowledge of rare disease genetics to be shared and evaluated. This will create comprehensive evidence-based gene panels for rare diseases. The resource is publically available for anyone who would like to view and download the gene panels. Experts can register as a reviewer to make evaluations of the gene panels.

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